Canonical Allele Identifier: CA2675573994
Gene: HBEGF HGNC NCBI

Linked Data

gnomAD v4: 5-140333484-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333484G>A , CM000667.2:g.140333484G>A GRCh38
NC_000005.9:g.139713069G>A , CM000667.1:g.139713069G>A GRCh37
NC_000005.8:g.139693253G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*815C>T MANE Select ENSP00000230990.6:n.*815C>T
ENST00000230990.6:c.*815C>T ENSP00000230990.6:n.*815C>T
NM_001945.2:c.*815C>T NP_001936.1:n.*815C>T
NM_001945.3:c.*815C>T MANE Select NP_001936.1:n.*815C>T
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